Annotation Detail

Information
Associated Genes
CRP
Associated Variants
IL6R p.Asp358Ala (p.D358A) ( ENST00000368485.8, ENST00000344086.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000368485.8, ENST00000344086.8 )
IL6R p.Asp358Ala (p.D358A) ( ENST00000344086.8, ENST00000368485.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000344086.8, ENST00000368485.8 )
Associated Disease
coronary artery disease
Source Database
DisGeNET
Description
Interleukin-6 receptor (IL-6R) gene Asp358Ala (A>C, rs2228145) polymorphism has been associated with lower circulating inflammation biomarkers in coronary artery disease (CAD), such as C-reactive protein (CRP) or fibrinogen, but its role in the pathogenesis of aortic valve stenosis (AS) remains unknown.
Pubmed
24717336
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.167287931828548
Year of publication
2014
Drugs